Abe A - Search Results

1

Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.

Abe A, Numakura C, Saito K, Koide H, Oka N, Honma A, Kishikawa Y, Hayasaka K. Abe A, et al. J Hum Genet. 2009 Feb;54(2):94-7. doi: 10.1038/jhg.2008.13. Epub 2009 Jan 16. J Hum Genet. 2009. PMID: 19158810

2

The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy.

Abe A, Hayasaka K. Abe A, et al. J Hum Genet. 2009 May;54(5):310-2. doi: 10.1038/jhg.2009.25. Epub 2009 Mar 27. J Hum Genet. 2009. PMID: 19329989

3

Phenotypic variability in a family with Townes-Brocks syndrome.

Sudo Y, Numakura C, Abe A, Aiba S, Matsunaga A, Hayasaka K. Sudo Y, et al. Among authors: abe a. J Hum Genet. 2010 Aug;55(8):550-1. doi: 10.1038/jhg.2010.64. Epub 2010 Jun 3. J Hum Genet. 2010. PMID: 20520617

4

Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1.

Abe A, Nakamura K, Kato M, Numakura C, Honma T, Seiwa C, Shirahata E, Itoh A, Kishikawa Y, Hayasaka K. Abe A, et al. J Hum Genet. 2010 Nov;55(11):771-3. doi: 10.1038/jhg.2010.106. Epub 2010 Aug 26. J Hum Genet. 2010. PMID: 20739940

5

Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.

Abe A, Numakura C, Kijima K, Hayashi M, Hashimoto T, Hayasaka K. Abe A, et al. J Hum Genet. 2011 May;56(5):364-8. doi: 10.1038/jhg.2011.20. Epub 2011 Feb 17. J Hum Genet. 2011. PMID: 21326314

6

Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.

Hayashi M, Abe A, Murakami T, Yamao S, Arai H, Hattori H, Iai M, Watanabe K, Oka N, Chida K, Kishikawa Y, Hayasaka K. Hayashi M, et al. Among authors: abe a. J Hum Genet. 2013 May;58(5):273-8. doi: 10.1038/jhg.2013.15. Epub 2013 Mar 7. J Hum Genet. 2013. PMID: 23466821

7

A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.

Tamiya G, Makino S, Hayashi M, Abe A, Numakura C, Ueki M, Tanaka A, Ito C, Toshimori K, Ogawa N, Terashima T, Maegawa H, Yanagisawa D, Tooyama I, Tada M, Onodera O, Hayasaka K. Tamiya G, et al. Among authors: abe a. Am J Hum Genet. 2014 Sep 4;95(3):294-300. doi: 10.1016/j.ajhg.2014.07.013. Epub 2014 Aug 21. Am J Hum Genet. 2014. PMID: 25152455 Free PMC article.

8

Severe neurotoxicities in a case of Charcot-Marie-Tooth disease type 2 caused by vincristine for acute lymphoblastic leukemia.

Nishikawa T, Kawakami K, Kumamoto T, Tonooka S, Abe A, Hayasaka K, Okamoto Y, Kawano Y. Nishikawa T, et al. Among authors: abe a. J Pediatr Hematol Oncol. 2008 Jul;30(7):519-21. doi: 10.1097/MPH.0b013e31816624a4. J Pediatr Hematol Oncol. 2008. PMID: 18797198

9

Mild phenotype of Charcot-Marie-Tooth disease type 4B1.

Murakami T, Kutoku Y, Nishimura H, Hayashi M, Abe A, Hayasaka K, Sunada Y. Murakami T, et al. Among authors: abe a. J Neurol Sci. 2013 Nov 15;334(1-2):176-9. doi: 10.1016/j.jns.2013.08.001. Epub 2013 Aug 9. J Neurol Sci. 2013. PMID: 23962696

10

A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation.

Ikeda Y, Abe A, Ishida C, Takahashi K, Hayasaka K, Yamada M. Ikeda Y, et al. Among authors: abe a. J Neurol Sci. 2009 Feb 15;277(1-2):9-12. doi: 10.1016/j.jns.2008.09.031. Epub 2008 Oct 25. J Neurol Sci. 2009. PMID: 18952241

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